May 2003
Volume 44, Issue 13
Free
ARVO Annual Meeting Abstract  |   May 2003
Primary Open-Angle Glaucoma (POAG) Candidate Gene Analysis
Author Affiliations & Notes
  • M.A. Hauser
    Ophthalmology & Medicine, Duke University, Durham, NC, United States
  • K.R. Abramson
    Ophthalmology, Duke University, Durham, NC, United States
  • J.L. Wiggs
    Ophthalmology, Massachusettes Eye and Ear Infirmary, Boston, MA, United States
  • E.A. del Bono
    Ophthalmology, Massachusettes Eye and Ear Infirmary, Boston, MA, United States
  • F.L. Graham
    Medicine, Duke University, Durham, NC, United States
  • M.A. Pericak-Vance
    Medicine, Duke University, Durham, NC, United States
  • J.L. Haines
    Vanderbilt University, Nashville, TN, United States
  • R.R. Allingham
    Vanderbilt University, Nashville, TN, United States
  • Footnotes
    Commercial Relationships  M.A. Hauser, None; K.R. Abramson, None; J.L. Wiggs, None; E.A. del Bono, None; F.L. Graham, None; M.A. Pericak-Vance, None; J.L. Haines, None; R.R. Allingham, None.
  • Footnotes
    Support  NIH grant EY10886
Investigative Ophthalmology & Visual Science May 2003, Vol.44, 1122. doi:
  • Views
  • Share
  • Tools
    • Alerts
      ×
      This feature is available to Subscribers Only
      Sign In or Create an Account ×
    • Get Citation

      M.A. Hauser, K.R. Abramson, J.L. Wiggs, E.A. del Bono, F.L. Graham, M.A. Pericak-Vance, J.L. Haines, R.R. Allingham; Primary Open-Angle Glaucoma (POAG) Candidate Gene Analysis . Invest. Ophthalmol. Vis. Sci. 2003;44(13):1122.

      Download citation file:


      © ARVO (1962-2015); The Authors (2016-present)

      ×
  • Supplements
Abstract

Abstract: : Purpose: We have previously reported linkage analysis of 86 POAG pedigrees to identify the chromosomal locations of POAG susceptibility genes (Wiggs et al, Hum. Mol. Genet., 9(7); 1109-1117). For these studies, POAG was defined as age of diagnosis >35, intraocular pressure greater than 22mm Hg in both eyes, glaucomatous optic nerve damage, and corresponding visual field loss in a least one eye. Phenotypic stratification gave increased evidence for linkage in individuals with an age of diagnosis ≤45 in four adjacent markers (GABRB3, d15s822, d15s217, d15s165) spanning chromosome 15q11.2 – 15q13.2, (Allingham, et al 2001). We present here the evaluation of several candidate susceptibility genes within the Chrom 15 linkage region. Methods: Candidate genes were selected throughout this region based on position, function and availability of completed sequence data from the UCSC genomic assembly. The coding regions of these genes (ATP10C, GABRA5, GABRB3, GABRG3, APBA2, Kiaa0574, TJP1) were sequenced to identify mutations and polymorphisms. A sample set of 14 individuals from 11 families and 2 control samples, were included in the screen. Intron/exon boundaries were determined by BLAT comparison of the cDNA sequence and the UCSC genomic assembly (http://genome.cse.ucsc.edu). Primers were designed flanking each exon, PCR amplification was performed, and the sequence reactions were run on an ABI3700, following standard protocols. Sequences were assembled into contigs and analyzed using Sequencher (Gene Codes Co., Ann Arbor, MI). Results: Several SNPs, silent mutations, and missense mutations were identified throughout the genes. None of the missense mutations identified clearly segregated with disease in the families screened. Conclusions: None of these genes play a primary causative role in POAG. Further association studies, utilizing the SNPs and mutations we have identified, are underway.

Keywords: candidate gene analysis • gene/expression • linkage analysis 
×
×

This PDF is available to Subscribers Only

Sign in or purchase a subscription to access this content. ×

You must be signed into an individual account to use this feature.

×